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Article

CRISPR/Cas9-Mediated Allele-Specific Disruption of a Dominant COL6A1 Pathogenic Variant Improves Collagen VI Network in Patient Fibroblasts.

International journal of molecular sciences - 16 Apr 2022

López-Márquez Arístides, Morín Matías, Fernández-Peñalver Sergio, Badosa Carmen, Hernández-Delgado Alejandro, Natera-de Benito Daniel, Ortez Carlos, Nascimento Andrés, Grinberg Daniel, Balcells Susanna, Roldán Mónica, Moreno-Pelayo Miguel Ángel, Jiménez-Mallebrera Cecilia

Abstract excerpt

Collagen VI-related disorders are the second most common congenital muscular dystrophies for which no treatments are presently available. They are mostly caused by dominant-negative pathogenic variants in the genes encoding α chains of collagen VI, a heteromeric network forming collagen; for example, the c.877G>A; p.Gly293Arg COL6A1 variant, which alters the proper association of the tetramers to form...

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Identifiers

PMID: 35457228
DOI: 10.3390/ijms23084410
PMCID: PMC9025481

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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CRISPR/Cas9-Mediated Allele-Specific Disruption of a Dominant COL6A1 Pathogenic Variant Improves Collagen VI Network in Patient Fibroblasts.PMID 35457228Read ↗

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